Entity Details

Primary name KCTD1
Entity type gene
Source Source Link

Details

PrimaryID284252
RefseqGeneNG_054919
SymbolKCTD1
Namepotassium channel tetramerization domain containing 1
Chromosome18
Location18q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCTD1_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0008134 transcription factor binding
GO:0034451 centriolar satellite
GO:0042802 identical protein binding
GO:0045171 intercellular bridge
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051260 protein homooligomerization

Diseases

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Disease IDSourceNameDescription
181270 OMIMScalp-ear-nipple syndrome (SENS)A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families. The disease is caused by variants affecting the gene represented in this entry.